CDKL5 is an X-linked serine/threonine kinase critical for early brain development and neuronal function. Mechanistically, CDKL5 mediates phosphorylation of MECP2 12 and regulates essential processes including axon outgrowth, dendritic morphogenesis, synapse formation and maintenance 3. The gene may also regulate ciliogenesis through ciliary basal body and centrosome functions. CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy characterized by early-onset seizures (typically within the first 2 months of life) that are usually refractory to conventional antiseizure medications 4. Affected individuals experience severely impaired development, with only 25% of girls achieving independent walking, alongside gastrointestinal, sleep, and musculoskeletal complications 4. CDD is classified as an X-linked developmental epileptic encephalopathy 5. Clinically, early genetic diagnosis is essential to provide appropriate family counseling and management strategies. Current therapeutic options including ketogenic diets and vagal nerve stimulation provide limited benefit, though gene replacement therapy using AAV9-mediated CDKL5 delivery shows promise in preclinical studies, with functional improvements observed in knockout mice at sufficient transfection levels 3. Disease-modifying therapies represent emerging treatment directions.